Canonical Allele Identifier: CA2175512007

Gene: FBN1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444574G= , CM000677.2:g.48444574G=	GRCh38
NC_000015.9:g.48736771G= , CM000677.1:g.48736771G=	GRCh37
NC_000015.8:g.46524063G=	NCBI36
NG_008805.2:g.206215C= , LRG_778:g.206215C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000138.5:c.6004C= MANE Select	NP_000129.3:p.Pro2002=
ENST00000316623.10:c.6004C= MANE Select	ENSP00000325527.5:p.Pro2002=
NM_000138.4:c.6004C= , LRG_778t1:c.6004C=	NP_000129.3:p.Pro2002=
ENST00000316623.9:c.6004C=	ENSP00000325527.5:p.Pro2002=
ENST00000537463.6:c.*1767C=	ENSP00000440294.2:n.*1767C=
ENST00000559133.5:c.1311C=
ENST00000559133.6:c.6004C=	ENSP00000453958.2:p.Pro2002=
ENST00000560820.1:n.124C=
ENST00000674301.1:c.1003C=	ENSP00000501333.1:p.Pro335=
ENST00000674301.2:c.6004C=	ENSP00000501333.2:p.Pro2002=
ENST00000684448.1:n.4678C=